A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372133



Internal ID15219109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10189575..10191473hg38UCSC Ensembl
Innerchr2:10190473..10190575hg38UCSC Ensembl
Outerchr2:10188575..10192473hg38UCSC Ensembl
chr2:10329701..10331599hg19UCSC Ensembl
Innerchr2:10330599..10330701hg19UCSC Ensembl
Outerchr2:10328701..10332599hg19UCSC Ensembl
chr2:10247152..10249050hg18UCSC Ensembl
Innerchr2:10248152..10248050hg18UCSC Ensembl
Outerchr2:10246152..10250050hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693355
SamplesNA19240
Known GenesC2orf48
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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